Beta-thalassaemia major (and intermedia)

Synonym(s):

Cooley's anaemia

ORPHANET code:

848

OMIM code:

141900, 604131

ICD-10 code:

D56.1

Group:

Thalassaemias

Subgroup:

Beta thalassaemia

Beta-thalassaemia major (intermedia) is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. It is a severe disease.

• What causes the disease and how common is it?

  This is a genetic disease. It is linked to a decreased expression of two of the Β-globin genes, encoding the Β-globin chains, one of the components of haemoglobin (Hb).

  It is a frequent disorder in people originating from the Mediterranean Basin, Asia and not rare in West-Africa. This is due to the fact that these areas were or are still infected with malaria and Β-thalassaemia confers a relative protection against malaria.

• What are the most frequent symptoms if I have the disease?

  Patients with Β-thalassaemia major also called Cooley’s anaemia, are healthy until the age of around six months and then become very pale due to profound anaemia. Without treatment, a child grows slowly, presents bone deformations, ...

  Patients with Β-thalassaemia intermedia have a moderate form of the disease.

• Which treatment must I follow if I have the disease?

  Most often, without blood transfusion a patient will die rapidly. The disease and the blood transfusions are also responsible of a body iron excess which must be “removed” by using “iron chelators”. The disease can be cured by a bone marrow transplantation. However it is not without side effects and should be discussed with specialists in the field.

• What is the risk of passing the condition on to my children?

  Two people who carry each one copy of the mutated gene (Β-thalassaemia trait) have a 25 percent risk of having a child affected by a more severe disorder (Β-thalassaemia major or Cooley’s anaemia) at each pregnancy. The risk of having a child who is a healthy carrier of the disorder is 50 percent at each pregnancy, and the risk that a child will not have the disorder and will not be a carrier is 25 percent. Ask for genetic counselling to get a complete explanation.